Linked Data
ClinVar Variation Id:
3177369
ClinVar RCV Id:
RCV004467211
dbSNP Id:
rs775505329
ExAC:
15:90163032 G / A
gnomAD v2:
15-90163032-G-A
gnomAD v4:
15-89619801-G-A
COSMIC:
COSM4057797
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89619801G>A , CM000677.2:g.89619801G>A | GRCh38 |
| NC_000015.9:g.90163032G>A , CM000677.1:g.90163032G>A | GRCh37 |
| NC_000015.8:g.87964036G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268138.12:c.3113G>A (TICRR) MANE Select | ENSP00000268138.7:p.Arg1038Gln | |
| ENST00000268138.11:c.3113G>A (TICRR) | ENSP00000268138.7:p.Arg1038Gln | |
| ENST00000558928.1:n.181-1606C>T (KIF7) | ||
| ENST00000560985.5:c.3110G>A (TICRR) | ENSP00000453306.1:p.Arg1037Gln | |
| NM_001308025.1:c.3110G>A (TICRR) | NP_001294954.1:p.Arg1037Gln | |
| NM_152259.3:c.3113G>A (TICRR) | NP_689472.3:p.Arg1038Gln | |
| XM_011521534.1:c.3974-1606C>T (KIF7) | XP_011519836.1:n.3974-1606C>T | |
| XM_011521535.1:c.3973+8800C>T (KIF7) | XP_011519837.1:n.3973+8800C>T | |
| XM_011521536.1:c.*65C>T (KIF7) | XP_011519838.1:n.*65C>T | |
| XM_011522162.1:c.3113G>A (TICRR) | XP_011520464.1:p.Arg1038Gln | |
| NM_152259.4:c.3113G>A (TICRR) MANE Select | NP_689472.3:p.Arg1038Gln |